Incidental Mutation 'IGL01768:Ruvbl1'
ID 154014
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ruvbl1
Ensembl Gene ENSMUSG00000030079
Gene Name RuvB-like AAA ATPase 1
Synonyms Pontin52, 2510009G06Rik, Tip49a
Accession Numbers
Essential gene? Probably essential (E-score: 0.970) question?
Stock # IGL01768
Quality Score
Status
Chromosome 6
Chromosomal Location 88442391-88474548 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 88474253 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 419 (I419V)
Ref Sequence ENSEMBL: ENSMUSP00000032165 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032165]
AlphaFold P60122
Predicted Effect probably benign
Transcript: ENSMUST00000032165
AA Change: I419V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000032165
Gene: ENSMUSG00000030079
AA Change: I419V

DomainStartEndE-ValueType
AAA 62 365 1.51e-11 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that has both DNA-dependent ATPase and DNA helicase activities and belongs to the ATPases associated with diverse cellular activities (AAA+) protein family. The encoded protein associates with several multisubunit transcriptional complexes and with protein complexes involved in both ATP-dependent remodeling and histone modification. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a null allele show impaired proliferation of the pluripotent inner mass cells and embryonic lethality before implantation. Conditional ablation of this gene in hematopoietic tissues leads to bone marrow failure involving apoptotic loss of hematopoietic stem cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aifm3 T C 16: 17,324,141 (GRCm39) V567A possibly damaging Het
Arnt T C 3: 95,398,327 (GRCm39) probably benign Het
C8b G A 4: 104,644,151 (GRCm39) E273K probably benign Het
Capn5 C T 7: 97,774,480 (GRCm39) R570H probably damaging Het
Cdh9 A T 15: 16,778,311 (GRCm39) D42V possibly damaging Het
Cdk17 T C 10: 93,044,123 (GRCm39) S21P probably damaging Het
Cdkl3 T A 11: 51,916,744 (GRCm39) F291I probably damaging Het
Cfap210 A T 2: 69,612,471 (GRCm39) probably benign Het
Clmn T C 12: 104,747,978 (GRCm39) E523G probably damaging Het
Cyp4f14 A T 17: 33,126,976 (GRCm39) I318N probably damaging Het
Daam1 T A 12: 72,036,659 (GRCm39) F1068L probably benign Het
Ext2 A G 2: 93,621,455 (GRCm39) probably benign Het
F5 T A 1: 164,003,914 (GRCm39) F236L probably benign Het
Fat2 A G 11: 55,153,394 (GRCm39) V3606A probably damaging Het
Gpam G A 19: 55,075,952 (GRCm39) T220M probably benign Het
Hyal1 C A 9: 107,456,338 (GRCm39) L342I probably damaging Het
Ilvbl C A 10: 78,419,127 (GRCm39) P459T possibly damaging Het
Itga5 A G 15: 103,259,997 (GRCm39) Y632H probably benign Het
Jkampl A T 6: 73,445,899 (GRCm39) L217M possibly damaging Het
Krt73 T C 15: 101,707,291 (GRCm39) D299G probably benign Het
Lcp1 T C 14: 75,461,573 (GRCm39) V522A probably benign Het
Lmo3 A G 6: 138,393,495 (GRCm39) C53R probably damaging Het
Nsun7 T C 5: 66,436,043 (GRCm39) V305A probably benign Het
Oprm1 T C 10: 6,779,186 (GRCm39) S196P probably damaging Het
Or2y1e G A 11: 49,218,958 (GRCm39) C240Y probably damaging Het
Or4z4 A T 19: 12,076,403 (GRCm39) I200N probably damaging Het
Or7e168 G A 9: 19,720,456 (GRCm39) V281M possibly damaging Het
Ovgp1 T C 3: 105,888,667 (GRCm39) probably null Het
Pcdhb20 T C 18: 37,639,768 (GRCm39) F765L possibly damaging Het
Ppp4r4 T C 12: 103,547,664 (GRCm39) V3A probably benign Het
Scara5 T A 14: 65,927,224 (GRCm39) C40* probably null Het
Siglec1 T C 2: 130,916,314 (GRCm39) Q1212R probably benign Het
Slc31a1 G A 4: 62,306,273 (GRCm39) probably null Het
Sparc G T 11: 55,296,069 (GRCm39) N87K probably damaging Het
Tcf12 T C 9: 71,776,278 (GRCm39) probably null Het
Timm44 A T 8: 4,316,860 (GRCm39) F258I probably benign Het
Tm2d2 G T 8: 25,508,095 (GRCm39) V80L possibly damaging Het
Tpr A G 1: 150,320,199 (GRCm39) D2249G possibly damaging Het
Trim50 G T 5: 135,392,736 (GRCm39) G217V possibly damaging Het
Ugcg T C 4: 59,217,216 (GRCm39) probably null Het
Vmn2r107 A T 17: 20,565,868 (GRCm39) H61L probably benign Het
Zfp84 A G 7: 29,476,091 (GRCm39) H261R probably benign Het
Zswim2 A T 2: 83,748,301 (GRCm39) M293K probably benign Het
Other mutations in Ruvbl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00230:Ruvbl1 APN 6 88,461,385 (GRCm39) unclassified probably benign
IGL00473:Ruvbl1 APN 6 88,468,550 (GRCm39) missense probably damaging 1.00
IGL03354:Ruvbl1 APN 6 88,456,197 (GRCm39) nonsense probably null
R0106:Ruvbl1 UTSW 6 88,450,182 (GRCm39) missense probably damaging 1.00
R0106:Ruvbl1 UTSW 6 88,450,182 (GRCm39) missense probably damaging 1.00
R0145:Ruvbl1 UTSW 6 88,461,441 (GRCm39) missense possibly damaging 0.90
R0676:Ruvbl1 UTSW 6 88,450,182 (GRCm39) missense probably damaging 1.00
R1448:Ruvbl1 UTSW 6 88,444,551 (GRCm39) missense probably benign 0.05
R1561:Ruvbl1 UTSW 6 88,456,136 (GRCm39) missense probably damaging 1.00
R1574:Ruvbl1 UTSW 6 88,456,136 (GRCm39) missense probably damaging 1.00
R1623:Ruvbl1 UTSW 6 88,462,752 (GRCm39) missense probably damaging 1.00
R2113:Ruvbl1 UTSW 6 88,460,003 (GRCm39) missense probably damaging 0.99
R2372:Ruvbl1 UTSW 6 88,462,779 (GRCm39) missense possibly damaging 0.53
R2397:Ruvbl1 UTSW 6 88,442,534 (GRCm39) missense possibly damaging 0.71
R2894:Ruvbl1 UTSW 6 88,456,114 (GRCm39) missense possibly damaging 0.87
R4037:Ruvbl1 UTSW 6 88,450,117 (GRCm39) missense probably damaging 1.00
R4604:Ruvbl1 UTSW 6 88,462,887 (GRCm39) missense probably benign
R4684:Ruvbl1 UTSW 6 88,468,581 (GRCm39) missense probably benign 0.00
R4714:Ruvbl1 UTSW 6 88,461,412 (GRCm39) missense possibly damaging 0.61
R4835:Ruvbl1 UTSW 6 88,474,211 (GRCm39) missense possibly damaging 0.69
R4939:Ruvbl1 UTSW 6 88,460,021 (GRCm39) splice site probably null
R5114:Ruvbl1 UTSW 6 88,474,272 (GRCm39) missense probably benign 0.41
R5126:Ruvbl1 UTSW 6 88,462,883 (GRCm39) missense probably benign 0.13
R5296:Ruvbl1 UTSW 6 88,462,890 (GRCm39) missense probably damaging 0.99
R5507:Ruvbl1 UTSW 6 88,444,582 (GRCm39) missense probably benign 0.00
R5559:Ruvbl1 UTSW 6 88,450,078 (GRCm39) missense possibly damaging 0.90
R5819:Ruvbl1 UTSW 6 88,460,097 (GRCm39) splice site probably null
R6048:Ruvbl1 UTSW 6 88,459,973 (GRCm39) missense possibly damaging 0.90
R6155:Ruvbl1 UTSW 6 88,456,107 (GRCm39) critical splice acceptor site probably null
R6564:Ruvbl1 UTSW 6 88,456,208 (GRCm39) missense possibly damaging 0.93
R6704:Ruvbl1 UTSW 6 88,456,187 (GRCm39) missense probably benign 0.06
R7681:Ruvbl1 UTSW 6 88,444,635 (GRCm39) critical splice donor site probably null
R8071:Ruvbl1 UTSW 6 88,450,108 (GRCm39) missense probably damaging 1.00
R9087:Ruvbl1 UTSW 6 88,474,355 (GRCm39) missense probably benign
R9274:Ruvbl1 UTSW 6 88,474,334 (GRCm39) missense probably benign
R9670:Ruvbl1 UTSW 6 88,444,558 (GRCm39) missense probably benign 0.01
Posted On 2014-02-04